A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213401



Internal ID20780441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:34921668..34942915hg38UCSC Ensembl
chr5:34921773..34943020hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3821248
hg1921248
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6388986
Supporting Variants
Samples
Known GenesBRIX1, DNAJC21
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213401
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00031


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